Category: Let's talk
Every year since 1966, the muscular dystrophy association (MDA) has held a 21 and a half hour telethon over the laborday holliday weekend. Volunteers are needed to do such things as answer phones, and greet people as they arrive. wherever there is a branch of the MDA, there is a telthon taking place in that city. If you are interested in helping out, go to the MDA'S web site, the URL is www.mdausa.org.
Thank you for reading this, and it is my hope that I will here some of your names on the national broadcast. I am proud to say, that I will be volunteering in philadelphia as part of my local one. If not for yourself, do it for 13 year old Mattie J.T. stepanek, who last week, lost his 13 year battle with mitochondrial myopathy.
Well I will certainly check out this site and do all I can, being quite the follower of Mattie.
below you will find a list of all 40 neuromuscular diseases in the MDA'S program.
Neuromuscular Diseases in the MDA'S program
Muscular Dystrophies
Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic)
Onset:
Early childhood - about 2 to 6 years.
Symptoms:
Generalized weakness and muscle wasting affecting limb and trunk muscles first. Calves often enlarged.
Progression:
Disease progresses slowly but will affect all voluntary muscles. Survival rare beyond late twenties.
Inheritance:
X-linked recessive (females are carriers).
Becker Muscular Dystrophy (BMD)
Onset:
Adolescence or adulthood.
Symptoms:
Almost identical to Duchenne but often much less severe. Can be significant heart involvements.
Progression:
Slower and more variable than Duchenne with survival well into mid to late adulthood.
Inheritance:
X-linked recessive (females are carriers).
Emery-Dreifuss Muscular Dystrophy (EDMD)
Onset:
Childhood to early teens.
Symptoms:
Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common.
Progression:
Disease usually progresses slowly. Frequent cardiac complications are common.
Inheritance:
X-linked recessive (females are carriers).
Limb-Girdle Muscular Dystrophy (LGMD)
Onset:
Childhood to middle age.
Symptoms:
Weakness and wasting affecting shoulder and pelvic girdles first.
Progression:
Usually progresses slowly with cardiopulmonary complications often occurring in later stages of the disease.
Inheritance:
Autosomal recessive, X-linked recessive.
Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as
Landouzy-Dejerine)
Onset:
Childhood to early adulthood.
Symptoms:
Facial muscle weakness, with weakness and wasting of the shoulders and upper arms.
Progression:
Progresses slowly with some periods of rapid deterioration. Disease may span many decades.
Inheritance:
Autosomal dominant.
Myotonic Dystrophy (MMD) (Also known as Steinert's Disease)
Onset:
Childhood to middle age.
Symptoms:
Generalized weakness and muscle wasting affecting face, feet, hands and neck first. Delayed relaxation of muscles after contraction. Congenital myotonic
form is more severe.
Progression:
Progression is slow, sometimes spanning 50 to 60 years.
Inheritance:
Autosomal dominant.
Oculopharyngeal Muscular Dystrophy (OPMD)
Onset:
Early adulthood to middle age.
Symptoms:
First affects muscles of eyelid and throat.
Progression:
Slow progression with swallowing problems common as disease progresses.
Inheritance:
Autosomal dominant.
Distal Muscular Dystrophy (DD)
Onset:
40-60 years.
Symptoms:
Weakness and wasting of muscles of the hands, forearms and lower legs.
Progression:
Slow progression but not life-threatening.
Inheritance:
Autosomal dominant
Congenital Muscular Dystrophy (CMD)
Onset:
At birth.
Symptoms:
Generalized muscle weakness with possible joint deformities.
Progression:
Disease progresses very slowly. Fukuyama form is more severe and involves mental functions.
Inheritance:
Autosomal recessive, autosomal dominant.
MOTOR NEURON DISEASES:
Amyotrophic Lateral Sclerosis (ALS) (Also known as Lou Gehrig's Disease)
[read more]
Onset:
Adulthood.
Symptoms:
Generalized weakness and muscle wasting with cramps and muscle twitches common.
Progression:
ALS first affects legs, arms and/or throat muscles. Usually progresses rapidly with 3 to 5 year average survival.
Inheritance:
Autosomal dominant, autosomal recessive.
Infantile Progressive Spinal Muscular Atrophy (SMA, SMA1 or WH) (Also known as SMA Type 1, Werdnig-Hoffman)
[read more]
Onset:
Before birth to 3 months.
Symptoms:
Generalized muscle weakness, weak cry, trouble swallowing as well as sucking, and breathing distress. Cannot sit up.
Progression:
Progresses very rapidly with early childhood death.
Inheritance:
Autosomal recessive.
Intermediate Spinal Muscular Atrophy (SMA or SMA2) (Also known as SMA Type 2)
[read more]
Onset:
6 months to 3 years.
Symptoms:
Weakness in arms, legs, upper and lower torso, often with skeletal deformities.
Progression:
Disease usually progresses rapidly and respiratory problems may develop.
Inheritance:
Autosomal recessive.
Juvenile Spinal Muscular Atrophy (SMA, SMA3 or KW) (Also known as SMA Type 3, Kugelberg-Welander)
[read more]
Onset:
1 to 15 years.
Symptoms:
Weakness in leg, hip, shoulder, arm and sometimes respiratory muscles.
Progression:
Disease progresses slowly. Wheelchair often required later in life. Life span usually not affected.
Inheritance:
Autosomal recessive.
Spinal Bulbar Muscular Atrophy (SBMA) (Also known as Kennedy's Disease and X-Linked SBMA)
[read more]
Onset:
Adulthood (20 to 50 years - variable severity).
Symptoms:
Weakness and muscle wasting of bulbar region (mouth and throat) and skeletal muscles. Usually affects only men -- women as carriers may have a mild form.
Facial fasciculations and mild sensory involvement are common.
Progression:
Slow, variable progression, sometimes accompanied by breast development, infertility and testicular wasting in men. Normal life span.
Inheritance:
X-linked recessive (females are carriers).
Adult Spinal Muscular Atrophy (SMA)
[read more]
Onset:
18 to 50 years.
Symptoms:
Generalized weakness and muscle wasting with muscle twitches common. X-linked form affects men only and involves muscles of mouth and throat as well as other
muscles.
Progression:
Variable disease progression. Relatively mild form of SMA with little impact on life expectancy.
Inheritance:
Autosomal dominant, autosomal recessive.
INFLAMMATORY MYOPATHIES:
Dermatomyositis (PM/DM)
Onset:
Childhood to late adulthood.
Symptoms:
Weakness of neck and limb muscles. Muscle pain and swelling common. Skin rash typically affecting cheeks, eyelids, neck, chest and limbs.
Progression:
Disease progression and severity vary among individuals. Often responds to drug therapy.
Polymyositis (PM/DM)
Onset:
Childhood to late adulthood.
Symptoms:
Weakness of neck and limb muscles. Muscle pain and swelling common. Sometimes associated with malignancy.
Progression:
Disease severity and progression vary among individuals. Often responds to drug therapy.
Inclusion Body Myositis (IBM)
Onset:
After age 50.
Symptoms:
Weakness of arms, legs and hands, especially thighs, wrists and fingers. Sometimes involves swallowing muscles.
Progression:
Slowly progressive. More common in men than women.
DISEASES OF THE NEUROMUSCULAR JUNCTION:
Myasthenia Gravis (MG)
Onset:
Childhood to adulthood.
Symptoms:
Weakness and fatigability of muscles of eyes, face, neck, throat, limbs and/or trunk.
Progression:
Disease progression varies. Drug therapy and/or removal of thymus gland often effective.
Lambert-Eaton Syndrome (LES)
Onset:
Adulthood to middle age.
Symptoms:
Weakness and fatigue of hip muscles with aching back and thigh muscles common. Lung tumor is sometimes present.
Progression:
Progression varies with success of drug therapy and treatment of any malignancy.
Congenital Myasthenic Syndrome (CMS)
Onset:
Infancy or childhood, can be later.
Symptoms:
Generalized weakness and fatigability of voluntary muscles, including those controlling mobility, eye movement, swallowing and breathing.
Progression:
Varies in severity, and weakness can fluctuate.
MYOPATHIES DUE TO ENDOCRINE ABNORMALITIES:
Hyperthyroid Myopathy (HYPTM)
Onset:
Childhood to adulthood.
Symptoms:
Weakness of upper arm and upper leg muscles. Some muscle wasting.
Progression:
Usually improves with treatment of underlying thyroid condition.
Hypothyroid Myopathy (HYPOTM)
Onset:
Childhood to adulthood.
Symptoms:
Weakness of arm and leg muscles. Stiffness and muscle cramps common.
Progression:
Usually improves with treatment of underlying thyroid condition.
DISEASES OF PERIPHERAL NERVE:
Charcot-Marie-Tooth Disease (CMT) (Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA))
Onset:
Childhood to young adulthood.
Symptoms:
Weakness and atrophy of muscles of hands and lower legs, with foot deformities and some loss of sensation in feet.
Progression:
Slow but variable progression among individuals. Normal life span.
Inheritance:
Autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant.
Dejerine-Sottas Disease (DS) (Also known as CMT Type 3 or Progressive Hypertrophic Interstitial Neuropathy)
Onset:
Early childhood.
Symptoms:
Same as CMT, but more severe. Delayed motor development in childhood. Weakness and muscle wasting affecting hands and lower legs. Variable loss of sensation
in feet.
Progression:
Severity and progression of disease vary.
Inheritance:
Believed to be autosomal dominant.
Friedreich's Ataxia (FA)
Onset:
Childhood to adolescence.
Symptoms:
Impairment of limb coordination, with weakness and muscle wasting.
Progression:
Severity and progression of disorder vary. Often associated with diabetes/heart disease.
Inheritance:
Autosomal recessive.
OTHER MYOPATHIES:
Myotonia Congenita (MC) (Two forms: Thomsen's and Becker's Disease)
Onset:
Infancy to childhood.
Symptoms:
Muscle stiffness and cramps usually occurring after periods of rest. With activity, returns to normal muscle function.
Progression:
Condition causes discomfort but is not life-threatening.
Inheritance:
Autosomal dominant, autosomal recessive.
Paramyotonia Congenita (PC)
Onset:
Childhood to early adulthood.
Symptoms:
Poor or difficult relaxation of muscles, which may worsen after repeated use or exercise. Often may be associated with hyperkalemic periodic paralysis.
Progression:
Condition causes discomfort throughout life but is not life-threatening.
Inheritance:
Autosomal dominant.
Central Core Disease (CCD)
Onset:
Early infancy to childhood.
Symptoms:
Delayed motor development. Hip displacement at birth not uncommon.
Progression:
Variable severity and progression. May be disabling.
Inheritance:
Autosomal dominant.
Nemaline Myopathy (NM)
Onset:
Early childhood.
Symptoms:
Delayed motor development. Weakness of arm, leg, trunk, face and throat muscles.
Progression:
Severity and progression vary. Life expectancy is threatened.
Inheritance:
Autosomal dominant, autosomal recessive.
Myotubular Myopathy (MTM or MM)
Onset:
Infancy.
Symptoms:
Drooping of upper eyelids, facial weakness, blackout spells. Weakness of the limbs and trunk muscles. Reflexes usually absent.
Progression:
Slow progression.
Inheritance:
X-linked recessive, autosomal recessive, autosomal dominant.
Periodic Paralysis (PP) (Two forms: Hypokalemic - HYPOP - and Hyperkalemic - HYPP)
Onset:
Childhood to adulthood.
Symptoms:
Episodes of generalized muscle weakness with periods of paralysis affecting arms, legs and neck. Hyperkalemic type may be associated with paramyotonia congenita.
Progression:
Frequency of attacks and severity vary. May respond to drug therapy.
Inheritance:
Autosomal dominant.
METABOLIC DISEASES OF MUSCLE:
Phosphorylase Deficiency (MPD or PYGM) (Also known as McArdle's Disease)
Onset:
Childhood to adolescence.
Symptoms:
Muscle cramps usually occurring after exercise. Intense exercise can cause muscle destruction and possible kidney damage.
Progression:
Variable severity and progression.
Inheritance:
Autosomal recessive.
Acid Maltase Deficiency (AMD) (Also known as Pompe's Disease)
Onset:
Infancy to adulthood.
Symptoms:
In infant form, disease is generalized and severe, with heart, liver and tongue enlargement common. Adult form involves weakness of upper arms and legs,
trunk and respiratory muscles.
Progression:
Progression varies.
Inheritance:
Autosomal recessive.
Phosphofructokinase Deficiency (PFKM) (Also known as Tarui's Disease)
Onset:
Childhood.
Symptoms:
Muscle fatigue that, upon exercise, can lead to severe cramps, nausea, vomiting, muscle damage and discoloration of urine.
Progression:
Progression varies widely.
Inheritance:
Autosomal recessive.
Debrancher Enzyme Deficiency (DBD) (Also known as Cori's or Forbes' Disease)
Onset:
Early childhood in first year.
Symptoms:
Generalized weakness and muscle wasting. Enlarged liver in infancy. Episodes of low blood sugar.
Progression:
Slow to variable progression. Muscular symptoms may be delayed until early teens and adulthood.
Inheritance:
Autosomal recessive.
Mitochondrial Myopathy (MITO)
Onset:
Early infancy to adulthood.
Symptoms:
Generalized muscle weakness, flaccid neck muscles and inability to walk. Brain is often involved, with seizures, deafness, loss of balance and vision, and
retardation common.
Progression:
Wide variety of progression and severity.
Inheritance:
Maternal mitochondrial gene (mtDNA).
Carnitine Deficiency (CD)
Onset:
Early childhood.
Symptoms:
Varied weakness of shoulders, hips, face and neck muscles.
Progression:
Progression varies and carnitine supplementation is often effective.
Inheritance:
Autosomal recessive.
Carnitine Palmityl Transferase Deficiency (CPT)
Onset:
Young adulthood.
Symptoms:
Inability to sustain moderate prolonged exercise. Prolonged exercise and/or fasting can cause severe muscle destruction with urine discoloration and kidney
damage.
Progression:
Severity varies.
Inheritance:
Autosomal recessive.
Phosphoglycerate Kinase Deficiency (PGK)
Onset:
Childhood to adolescence.
Symptoms:
Muscle pain and weakness, with muscle damage and urine discoloration possible after vigorous exercise.
Progression:
Severity varies. Avoid intense exercise.
Inheritance:
X-linked recessive, autosomal recessive.
Phosphoglycerate Mutase Deficiency (PGAM or PGAMM)
Onset:
Childhood to adulthood.
Symptoms:
Muscle pain, cramps, muscle damage and urine discoloration possible during intense exercise of brief duration.
Progression:
Severity varies. Avoid intense exercise.
Inheritance:
Autosomal recessive.
Lactate Dehydrogenase Deficiency (LDHA)
Onset:
Childhood to adolescence.
Symptoms:
Exercise intolerance with muscle damage and urine discoloration possible following strenuous physical activity.
Progression:
Severity varies. Avoid intense exercise.
Inheritance:
Autosomal recessive.
Myoadenylate Deaminase Deficiency (MAD)
Onset:
Early adulthood to middle age.
Symptoms:
Muscle fatigue and weakness during and after exertion, with muscle soreness or cramping. May not attain prior performance levels.
Progression:
Severity varies. Usually nonprogressive and non-debilitating.
Inheritance:
Autosomal recessive.
As I stated in the previous post, the web site of the muscular dystrophy association is full of information. If you have any other questions, visit that site, and they will be answered.
Gee, you could have posted a link, perhaps?